Hs02517777_cn

• Gene Symbol: AMH
• Assay Reference Genome Location: Chr.19:2250867 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 268
• Gene Name: anti-Mullerian hormone
• Gene Aliases: MIF, MIS
• Location: Chr.19:2249114-2252073 on Build GRCh38
• Assay Gene Location: Overlaps Intron 3 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMH	NM_000479.3			NP_000470.2
	BC049194.1			AAH49194.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv578382	Chr.19:2194897 - 2260362 on Build GRCh38	Loss	AMH LOC105372239 SF3A2 MIR1227 MIR6789 MIR4321 PLEKHJ1 JSRP1 DOT1L
dgv6218n54	Chr.19:2221793 - 2336009 on Build GRCh38	Loss	LOC105372239 SF3A2 MIR1227 LINGO3 SPPL2B AMH LSM7 OAZ1 MIR6789 MIR4321 PLEKHJ1 JSRP1 C19orf35 DOT1L
nsv578383	Chr.19:2214058 - 2285197 on Build GRCh38	Loss	AMH LOC105372239 OAZ1 SF3A2 MIR1227 MIR6789 MIR4321 PLEKHJ1 JSRP1 C19orf35 DOT1L
nsv833707	Chr.19:2187092 - 2372223 on Build GRCh38	Loss	LOC105372239 SF3A2 MIR1227 LINGO3 SPPL2B AMH LSM7 OAZ1 MIR6789 MIR4321 PLEKHJ1 JSRP1 C19orf35 DOT1L

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

preantral ovarian follicle growth
urogenital system development
Mullerian duct regression
cell-cell signaling
gonadal mesoderm development
sex determination
sex differentiation
aging
positive regulation of gene expression
response to organic cyclic compound
response to drug
positive regulation of NF-kappaB transcription factor activity
negative regulation of ovarian follicle development

Function(s)

receptor binding
transforming growth factor beta receptor binding
hormone activity
growth factor activity